National Multicentre Study of the Natural History of Acid Sphingo-myelinase Deficiency in Adults and Children

Launched by WLADIMIR MAUHIN, DR · May 14, 2025

Keywords

ClinConnect Summary

This clinical trial, called the National Multicentre Study of the Natural History of Acid Sphingomyelinase Deficiency (ASMD), aims to understand how ASMD affects both children and adults over time. ASMD, also known as Niemann Pick Disease, is a rare condition that can impact daily life and overall quality of life. The study will look at patients with a confirmed diagnosis of ASMD, whether or not they are receiving specific treatments, to better assess the disease’s effects.

To be eligible for this study, participants must be at least 2 years old and have a confirmed diagnosis based on specific tests that measure acid sphingomyelinase levels. They also need to be informed about the study and agree to participate. Importantly, the study is not yet recruiting participants, but it will include both males and females. Participants can expect to share their experiences and health information, which will contribute to a deeper understanding of ASMD and help improve care for others with this condition.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • 1. Any patient aged at least 2 years, with a confirmed diagnosis of ASMD determined by a lowered acid sphingomyelinase assay.
• • 2. Have received written and oral information about the protocol and have not expressed opposition to participating in the study.
• • 3. Affiliated to the social security system or entitled to benefits (excluding AME).
• Exclusion Criteria:
• • 1. Inability to understand the information provided,
• • 2. Under guardianship, trusteeship or judicial protection,
• • 3. Under detention or deprived of liberty by judicial or administrative decision.